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Protein

Pulmonary surfactant-associated protein A2

Gene

SFTPA2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

In presence of calcium ions, it binds to surfactant phospholipids and contributes to lower the surface tension at the air-liquid interface in the alveoli of the mammalian lung and is essential for normal respiration.

Miscellaneous

Pulmonary surfactant consists of 90% lipid and 10% protein. There are 4 surfactant-associated proteins: 2 collagenous, carbohydrate-binding glycoproteins (SP-A and SP-D) and 2 small hydrophobic proteins (SP-B and SP-C).

GO - Molecular functioni

  • lipopolysaccharide binding Source: GO_Central
  • monosaccharide binding Source: GO_Central

GO - Biological processi

Keywordsi

Biological processGaseous exchange
LigandCalcium, Lectin

Enzyme and pathway databases

ReactomeiR-HSA-166016 Toll Like Receptor 4 (TLR4) Cascade
R-HSA-168179 Toll Like Receptor TLR1:TLR2 Cascade
R-HSA-391160 Signal regulatory protein family interactions
R-HSA-5683826 Surfactant metabolism
R-HSA-5686938 Regulation of TLR by endogenous ligand
R-HSA-5687868 Defective SFTPA2 causes idiopathic pulmonary fibrosis (IPF)
R-HSA-5688849 Defective CSF2RB causes pulmonary surfactant metabolism dysfunction 5 (SMDP5)
R-HSA-5688890 Defective CSF2RA causes pulmonary surfactant metabolism dysfunction 4 (SMDP4)

Names & Taxonomyi

Protein namesi
Recommended name:
Pulmonary surfactant-associated protein A2
Short name:
PSP-A
Short name:
PSPA
Short name:
SP-A
Short name:
SP-A2
Alternative name(s):
35 kDa pulmonary surfactant-associated protein
Alveolar proteinosis protein
Collectin-5
Gene namesi
Name:SFTPA2
Synonyms:COLEC5, PSAP, SFTP1, SFTPA, SFTPA2B
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 10

Organism-specific databases

EuPathDBiHostDB:ENSG00000185303.15
HGNCiHGNC:10799 SFTPA2
MIMi178642 gene
neXtProtiNX_Q8IWL1

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Extracellular matrix, Secreted, Surface film

Pathology & Biotechi

Involvement in diseasei

Pulmonary fibrosis, idiopathic (IPF)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA lung disease characterized by shortness of breath, radiographically evident diffuse pulmonary infiltrates, and varying degrees of inflammation and fibrosis on biopsy. In some cases, the disorder can be rapidly progressive and characterized by sequential acute lung injury with subsequent scarring and end-stage lung disease.
See also OMIM:178500
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_063519198F → S in IPF; rare mutation; the mutant protein is retained in the endoplasmic reticulum and is not secreted. 1 Publication1
Natural variantiVAR_063520231G → V in IPF; rare mutation; the mutant protein is retained in the endoplasmic reticulum and is not secreted. 1 Publication1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi729238
MalaCardsiSFTPA2
MIMi178500 phenotype
Orphaneti2032 Idiopathic pulmonary fibrosis
PharmGKBiPA35711

Polymorphism and mutation databases

BioMutaiSFTPA2
DMDMi60416439

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 20Add BLAST20
ChainiPRO_000001745821 – 248Pulmonary surfactant-associated protein A2Add BLAST228

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Disulfide bondi26Interchain1 Publication
Modified residuei304-hydroxyprolineBy similarity1
Modified residuei334-hydroxyprolineBy similarity1
Modified residuei364-hydroxyprolineBy similarity1
Modified residuei424-hydroxyprolineBy similarity1
Modified residuei544-hydroxyprolineBy similarity1
Modified residuei574-hydroxyprolineBy similarity1
Modified residuei634-hydroxyprolineBy similarity1
Modified residuei674-hydroxyprolineBy similarity1
Modified residuei704-hydroxyprolineBy similarity1
Disulfide bondi155 ↔ 246PROSITE-ProRule annotation1 Publication
Glycosylationi207N-linked (GlcNAc...) asparagineCurated1
Disulfide bondi224 ↔ 238PROSITE-ProRule annotation1 Publication

Post-translational modificationi

N-acetylated.1 Publication

Keywords - PTMi

Acetylation, Disulfide bond, Glycoprotein, Hydroxylation

Proteomic databases

PaxDbiQ8IWL1
PeptideAtlasiQ8IWL1
PRIDEiQ8IWL1
ProteomicsDBi70868

PTM databases

iPTMnetiQ8IWL1
PhosphoSitePlusiQ8IWL1

Expressioni

Gene expression databases

BgeeiENSG00000185303 Expressed in 92 organ(s), highest expression level in upper lobe of lung
CleanExiHS_PSAP
HS_SFTPA2B
ExpressionAtlasiQ8IWL1 baseline and differential
GenevisibleiQ8IWL1 HS

Organism-specific databases

HPAiCAB002439
HPA042638
HPA045752
HPA049368

Interactioni

Subunit structurei

Oligomeric complex of 6 set of homotrimers.

Protein-protein interaction databases

BioGridi609641, 12 interactors
IntActiQ8IWL1, 1 interactor
STRINGi9606.ENSP00000361400

Structurei

3D structure databases

ProteinModelPortaliQ8IWL1
SMRiQ8IWL1
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini28 – 100Collagen-likeAdd BLAST73
Domaini132 – 248C-type lectinPROSITE-ProRule annotationAdd BLAST117

Sequence similaritiesi

Belongs to the SFTPA family.Curated

Keywords - Domaini

Collagen, Signal

Phylogenomic databases

eggNOGiKOG4297 Eukaryota
ENOG410XPJ1 LUCA
HOGENOMiHOG000085660
HOVERGENiHBG108270
InParanoidiQ8IWL1
KOiK10067
OrthoDBiEOG091G0PU5
PhylomeDBiQ8IWL1
TreeFamiTF330481

Family and domain databases

CDDicd03591 CLECT_collectin_like, 1 hit
Gene3Di3.10.100.10, 1 hit
InterProiView protein in InterPro
IPR001304 C-type_lectin-like
IPR016186 C-type_lectin-like/link_sf
IPR018378 C-type_lectin_CS
IPR033990 Collectin_CTLD
IPR016187 CTDL_fold
PfamiView protein in Pfam
PF00059 Lectin_C, 1 hit
SMARTiView protein in SMART
SM00034 CLECT, 1 hit
SUPFAMiSSF56436 SSF56436, 1 hit
PROSITEiView protein in PROSITE
PS00615 C_TYPE_LECTIN_1, 1 hit
PS50041 C_TYPE_LECTIN_2, 1 hit

Sequence (1+)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry has 1 described isoform and 3 potential isoforms that are computationally mapped.Show allAlign All

Q8IWL1-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MWLCPLALNL ILMAASGAAC EVKDVCVGSP GIPGTPGSHG LPGRDGRDGV
60 70 80 90 100
KGDPGPPGPM GPPGETPCPP GNNGLPGAPG VPGERGEKGE AGERGPPGLP
110 120 130 140 150
AHLDEELQAT LHDFRHQILQ TRGALSLQGS IMTVGEKVFS SNGQSITFDA
160 170 180 190 200
IQEACARAGG RIAVPRNPEE NEAIASFVKK YNTYAYVGLT EGPSPGDFRY
210 220 230 240
SDGTPVNYTN WYRGEPAGRG KEQCVEMYTD GQWNDRNCLY SRLTICEF
Length:248
Mass (Da):26,182
Last modified:March 1, 2003 - v1
Checksum:i3949613C32CA0078
GO

Computationally mapped potential isoform sequencesi

There are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
R4GMN3R4GMN3_HUMAN
Pulmonary surfactant-associated pro...
SFTPA2
97Annotation score:
X6REF7X6REF7_HUMAN
Pulmonary surfactant-associated pro...
SFTPA2
158Annotation score:
A0A1W2PR89A0A1W2PR89_HUMAN
Pulmonary surfactant-associated pro...
SFTPA2
38Annotation score:

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti247E → D in AAA60319 (PubMed:1372511).Curated1

Polymorphismi

At least 6 alleles of SFTPA2 are known: 1A, 1A0, 1A1, 1A2, 1A3 and 1A4. The sequence shown is that of allele 1A0.

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0212939N → T in allele 1A, allele 1A(1), allele 1A(2) and allele 1A(4). 6 PublicationsCorresponds to variant dbSNP:rs1059046Ensembl.1
Natural variantiVAR_06351812L → W1 Publication1
Natural variantiVAR_02129450V → L2 PublicationsCorresponds to variant dbSNP:rs192907309EnsemblClinVar.1
Natural variantiVAR_02129591A → P in allele 1A. 3 PublicationsCorresponds to variant dbSNP:rs17886395EnsemblClinVar.1
Natural variantiVAR_063519198F → S in IPF; rare mutation; the mutant protein is retained in the endoplasmic reticulum and is not secreted. 1 Publication1
Natural variantiVAR_021296223Q → K in allele 1A(1), allele 1A(3) and allele 1A(4). 4 PublicationsCorresponds to variant dbSNP:rs1965708EnsemblClinVar.1
Natural variantiVAR_063520231G → V in IPF; rare mutation; the mutant protein is retained in the endoplasmic reticulum and is not secreted. 1 Publication1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
K03475 mRNA Translation: AAA36520.1
M68519 Genomic DNA Translation: AAA60319.1
HQ021421 mRNA Translation: ADO27664.1
HQ021422 mRNA Translation: ADO27665.1
HQ021423 mRNA Translation: ADO27666.1
HQ021424 mRNA Translation: ADO27667.1
HQ021427 mRNA Translation: ADO27670.1
HQ021428 mRNA Translation: ADO27671.1
HQ021429 mRNA Translation: ADO27672.1
HQ021430 mRNA Translation: ADO27673.1
AY206682 Genomic DNA Translation: AAO13490.1
BX248123 Genomic DNA No translation available.
BC111571 mRNA Translation: AAI11572.1
BC139727 mRNA Translation: AAI39728.1
BC157866 mRNA Translation: AAI57867.1
BC157890 mRNA Translation: AAI57891.1
CCDSiCCDS41540.1
PIRiB25720 LNHUP1
I51921
RefSeqiNP_001092138.1, NM_001098668.3
NP_001307742.1, NM_001320813.1
XP_005270189.1, XM_005270132.3
XP_011538426.1, XM_011540124.1
XP_011538427.1, XM_011540125.1
XP_016872097.1, XM_017016608.1
UniGeneiHs.523084

Genome annotation databases

EnsembliENST00000372325; ENSP00000361400; ENSG00000185303
ENST00000372327; ENSP00000361402; ENSG00000185303
GeneIDi729238
KEGGihsa:729238
UCSCiuc001kal.5 human

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Cross-referencesi

Web resourcesi

SeattleSNPs

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
K03475 mRNA Translation: AAA36520.1
M68519 Genomic DNA Translation: AAA60319.1
HQ021421 mRNA Translation: ADO27664.1
HQ021422 mRNA Translation: ADO27665.1
HQ021423 mRNA Translation: ADO27666.1
HQ021424 mRNA Translation: ADO27667.1
HQ021427 mRNA Translation: ADO27670.1
HQ021428 mRNA Translation: ADO27671.1
HQ021429 mRNA Translation: ADO27672.1
HQ021430 mRNA Translation: ADO27673.1
AY206682 Genomic DNA Translation: AAO13490.1
BX248123 Genomic DNA No translation available.
BC111571 mRNA Translation: AAI11572.1
BC139727 mRNA Translation: AAI39728.1
BC157866 mRNA Translation: AAI57867.1
BC157890 mRNA Translation: AAI57891.1
CCDSiCCDS41540.1
PIRiB25720 LNHUP1
I51921
RefSeqiNP_001092138.1, NM_001098668.3
NP_001307742.1, NM_001320813.1
XP_005270189.1, XM_005270132.3
XP_011538426.1, XM_011540124.1
XP_011538427.1, XM_011540125.1
XP_016872097.1, XM_017016608.1
UniGeneiHs.523084

3D structure databases

ProteinModelPortaliQ8IWL1
SMRiQ8IWL1
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi609641, 12 interactors
IntActiQ8IWL1, 1 interactor
STRINGi9606.ENSP00000361400

PTM databases

iPTMnetiQ8IWL1
PhosphoSitePlusiQ8IWL1

Polymorphism and mutation databases

BioMutaiSFTPA2
DMDMi60416439

Proteomic databases

PaxDbiQ8IWL1
PeptideAtlasiQ8IWL1
PRIDEiQ8IWL1
ProteomicsDBi70868

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000372325; ENSP00000361400; ENSG00000185303
ENST00000372327; ENSP00000361402; ENSG00000185303
GeneIDi729238
KEGGihsa:729238
UCSCiuc001kal.5 human

Organism-specific databases

CTDi729238
DisGeNETi729238
EuPathDBiHostDB:ENSG00000185303.15
GeneCardsiSFTPA2
H-InvDBiHIX0170313
HGNCiHGNC:10799 SFTPA2
HPAiCAB002439
HPA042638
HPA045752
HPA049368
MalaCardsiSFTPA2
MIMi178500 phenotype
178642 gene
neXtProtiNX_Q8IWL1
Orphaneti2032 Idiopathic pulmonary fibrosis
PharmGKBiPA35711
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG4297 Eukaryota
ENOG410XPJ1 LUCA
HOGENOMiHOG000085660
HOVERGENiHBG108270
InParanoidiQ8IWL1
KOiK10067
OrthoDBiEOG091G0PU5
PhylomeDBiQ8IWL1
TreeFamiTF330481

Enzyme and pathway databases

ReactomeiR-HSA-166016 Toll Like Receptor 4 (TLR4) Cascade
R-HSA-168179 Toll Like Receptor TLR1:TLR2 Cascade
R-HSA-391160 Signal regulatory protein family interactions
R-HSA-5683826 Surfactant metabolism
R-HSA-5686938 Regulation of TLR by endogenous ligand
R-HSA-5687868 Defective SFTPA2 causes idiopathic pulmonary fibrosis (IPF)
R-HSA-5688849 Defective CSF2RB causes pulmonary surfactant metabolism dysfunction 5 (SMDP5)
R-HSA-5688890 Defective CSF2RA causes pulmonary surfactant metabolism dysfunction 4 (SMDP4)

Miscellaneous databases

ChiTaRSiSFTPA2 human
GeneWikiiSFTPA2
GenomeRNAii729238
PROiPR:Q8IWL1
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000185303 Expressed in 92 organ(s), highest expression level in upper lobe of lung
CleanExiHS_PSAP
HS_SFTPA2B
ExpressionAtlasiQ8IWL1 baseline and differential
GenevisibleiQ8IWL1 HS

Family and domain databases

CDDicd03591 CLECT_collectin_like, 1 hit
Gene3Di3.10.100.10, 1 hit
InterProiView protein in InterPro
IPR001304 C-type_lectin-like
IPR016186 C-type_lectin-like/link_sf
IPR018378 C-type_lectin_CS
IPR033990 Collectin_CTLD
IPR016187 CTDL_fold
PfamiView protein in Pfam
PF00059 Lectin_C, 1 hit
SMARTiView protein in SMART
SM00034 CLECT, 1 hit
SUPFAMiSSF56436 SSF56436, 1 hit
PROSITEiView protein in PROSITE
PS00615 C_TYPE_LECTIN_1, 1 hit
PS50041 C_TYPE_LECTIN_2, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiSFPA2_HUMAN
AccessioniPrimary (citable) accession number: Q8IWL1
Secondary accession number(s): A4QPA7
, B2RXI6, B2RXK9, C9J9I7, E3VLC6, E3VLC7, E3VLC8, E3VLC9, P07714, Q14DV3, Q5RIR8, Q5RIR9
Entry historyiIntegrated into UniProtKB/Swiss-Prot: April 1, 1988
Last sequence update: March 1, 2003
Last modified: November 7, 2018
This is version 150 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. Human chromosome 10
    Human chromosome 10: entries, gene names and cross-references to MIM
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Main funding by: National Institutes of Health

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